Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

by Maha Dahawi, Maha Dahawi, Mohamed S. Elmagzoub, Mohamed S. Elmagzoub, Elhami A. Ahmed, Elhami A. Ahmed, Sara Baldassari, Guillaume Achaz, Guillaume Achaz, Guillaume Achaz, Fatima A. Elmugadam, Wasma A. Abdelgadir, Stéphanie Baulac, Julien Buratti, Omer Abdalla, Sahar Gamil, Maha Alzubeir, Maha Alzubeir, Rayan Abubaker, Eric Noé, Eric Noé, Liena Elsayed, Liena Elsayed, Ammar E. Ahmed, Ammar E. Ahmed, Eric Leguern, Eric Leguern
Published 2021-10-01

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

by Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
Published 2021-02-01

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

by Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
Published 2018-10-01